Genetic associations of non-MHC susceptibility loci with systemic sclerosis in a Han Chinese population

Systemic sclerosis (SSc) is a complex rheumatic disease characterized by fibrosis of the skin and internal organs, vasculopathy, and autoimmunity (Denton and Khanna, 2017). Though the exact etiology of SSc remains unclear, genetic factors contribute significantly to SSc pathogenesis. A total of 7 genome-wide association studies (GWAS) have identified 34 non-major histocompatibility complex (MHC) loci associated with SSc at genome-wide significance (Ota and Kuwana, 2021). However, the majority of these genes were discovered in Caucasians, with other ethnicities underrepresented.